[Gaucher's disease: hemorrhagic diathesis and term pregnancy with the birth of a malformed fetus].
A patient suffering from Gaucher's disease observed for the first time five years age while in pregnancy and observed again during a second pregnancy ended with the delivery of a malformed female infant is presented. Laboratory findings of this case and their correlation with the clinical manifestations of this disease are underlined. Occurrence of foetal malformations in this disease is also discussed.
D000015:Abnormalities, Multiple / Q000209:etiology*; D000328:Adult; D002902:Chromosomes, Human, 16-18; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000201:enzymology; D006474:Hemorrhagic Disorders / Q000209:etiology*; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic; D013163:Splenomegaly / Q000209:etiology; D014314:Trisomy; D001617:beta-Glucosidase / Q000172:deficiency
D001617:beta-Glucosidase
Morbo di Gaucher: diatesi emorragica e gravidanza conclusa con la nascita di un feto malformato.